Me, You and PKU

Elisa, a new mom and blogger, shared the story of her PKU diagnosis with us in an earlier post for Newborn Screening Awareness. PKU, or Phenylketonuria, is a rare genetic condition which affects the nervous system if undetected and untreated. Treatment for PKU is preventative and involves following a phenylalanine-restricted diet.Here isher interview where she tells us about her life with PKU for National PKU Awareness Day.

I am 26 years old. I was born in a suburb of Seattle. My parents have three girls and I am the oldest. Our whole family is musical. I love to be in nature. I graduated from Brigham Young University (BYU) with a bachelor’s in public health. While there, I sang in the choirs, including BYU Singers. I am married and my husband and I are the parents of a bright, darling, energetic 17 month old baby girl. We live in Tempe, Arizona. I enjoy taking my daughter to the library, thrift store shopping, and putting on a story time for the children in our apartment complex.

How did your parents manage having a child with a metabolic condition? How did they handle having one child with dietary restrictions and two children without?

I think my parents responded really well by striking a perfect balance between being committed/strict with the diet, but not letting it take over our lives. We ate dinner together every night, and I simply had a different main dish than everyone else. There was no hiding it or feeling sorry for me. I think that was really good because of course I had to get used to eating differently than everyone else. There is no other option, really. They also didn’t let it stop us from doing anything. We went to Disneyland, Grandma’s house, and eventually traveled abroad when we were all older.

I attended the PKU clinic at the University of Washington. I have since learned I received some of the best care available at the time. I was on a low-protein diet. I drank supplemental low-Phenylalanine formula. My parents were given resources to estimate my Phe intake. We followed the diet strictly, though we weren’t big on counting Phe. Every month I went to clinic to get a blood draw, give a three-day food record to the nutritionist, see the geneticist. Also while there, my parents met with a social worker in a parent support group setting while I went to a class with the other children, taught by a nutritionist. We learned age-appropriate skills for managing our diet and explaining it to others, and had hands-on practice with preparing low-protein food. (Now, having studied health promotion in college, I look back and think, what could be better!) I remember once a year or so doing cognitive testing. I thought it was fun.

What is it like managing your own health now, as opposed to having your parents do it for you? How was that transition?

That transition happened when I went off to college. By then I had clearly established habits, so I didn’t have a problem following the diet. The only thing that was hard was cooking for myself. Having to think of things to eat was sometimes a challenge. I have gotten a lot better at that since then.

How does having PKU influence your life now that you have your own family?

Now that I have a husband and baby, I actually wish I could eat normal food more than I ever have. I have to cook separate meals for us (which is what my mom did all those years, bless her!). It’s more work, and it’s also hard to motivate myself to cook things for them that I can’t eat myself.

Pregnancy and PKU, what’s that like?

It’s of course extremely important to manage your blood-Phe levels during pregnancy, as they can affect the fetus. Since this was already a habit for me, I didn’t have to change much. During the first trimester I was especially careful. Throughout my pregnancy I sent in finger-poke blood samples every week and the dieticians called me to talk with me and discuss any necessary adjustments to my diet. In the second trimester it wasn’t long before I needed to eat more protein to keep with the demands of a growing baby. By the third trimester I couldn’t get enough from food (I still didn’t eat high-protein foods) so I was advised to add cow’s milk to my formula. Overall it was pretty smooth.

If it didn’t cost money it would be interesting to know. But it won’t affect our decisions to have children. If I had a child with PKU it wouldn’t be the end of the world. I mean I would certainly know how to deal with that! And I know it hasn’t stopped me from having a great life!

Have you ever become frustrated with having PKU? Have you ever felt angry or depressed about it? What helps you stay positive?

Sure I’ve had some down moments about it. There were times in high school where I was self-conscious drinking my formula. My mom always told me, “If you don’t care, they won’t care!” Good advice for any teenager, really.

I remember one instance when I was touring England with BYU Singers that I was particularly discouraged. Tour is physically and emotionally exhausting as is, and I remember at the end of one long day we stopped to eat our dinner and it was pizza. I was like, “really? I can’t eat this.” I guess I thought the people in charge were going to look out for me more. I wanted to cry. But a friend let me borrow her money card (I had forgotten mine) and two other friends walked with me to a Chipotle to get a veggie burrito. I was told I scarfed that thing down.

Overall, for some reason I can’t fully explain, I have never thought much about having PKU (except when doing interviews like this or writing on my blog). It is just such a small part of my life. It has never occurred to me to be mad about it. It is just the way it is.

In what ways has having PKU had a positive impact on your life?

When I do get the chance to talk about it and encourage others who have it, I feel really blessed to be a part of such a unique population and to have a place where I can try to do some good. I feel like I was meant to have PKU and I am grateful.

Also, I think following the diet from a young age has given me a lot of self-discipline.

How does having PKU influence your personal identity and your self-narrative? Is it an important part of who you are and how you define yourself, or does it not play a large part in your identity?

In some ways I think it’s a small part of my identity. In other ways I am sure it has really shaped me. I think the physical, day-to-day aspects of drinking my formula and following my diet are no big deal. Those don’t define me. Some of my best friends even forget I have PKU sometimes, because it’s such a small part of who I am as a person.

I think it’s hard to know how things in our lives have shaped us. One thing I know about myself is that I have a very strong inner locus of control. If something isn’t going the way I want it to, I change it. If I can’t change it I try to change my perspective. I don’t play the victim. So I wonder if PKU has taught me this because it is something that I have always just accepted. I can’t do anything about the fact that I have a genetic mutation that prevents me from processing phenylalanine, but I can choose to follow the treatment protocol and reap the benefits.

What have been the most helpful people, programs, or entities that have helped you throughout the journey that is having PKU?

I think my family is huge. The fact that they helped me adhere to the diet despite the inconveniences. They provided a life for me that was so much more than what I can and can’t eat.

Also my remarkable PKU clinic that I described earlier. They instilled a belief in strict adherence to the diet, provided emotional support, and taught skills to help us do that.

And most importantly my faith. My belief in God and that He has great purposes for each of us gives me a perspective that there is so much more to life. Because of my Mormon background I believe in keeping my body healthy and using my gifts to do good in the world.

You now have a PKU blog and are active in PKU awareness. In your opinion, what is the most important message to get out there?

I can’t emphasize enough how important diet-compliance is. This genetic disorder is unique, in that, unlike many disorders or diseases, it is treatable! Patients with PKU can have normal, successful, happy lives if they follow the diet and drink their formula. That said, it is a fact that many people, for varied and complex reasons, do not follow the diet and drink their formula. So in my opinion, the time, money and expertise invested in PKU should be put towards doing anything we can to enable, empower and encourage patients to follow the treatment plan. This may involve anything from standardizing care, to advocating for insurance coverage of medical foods, to conducting needs assessments and implementing best practices for treatment. We should be finding out what factors contribute to a person with PKU following their diet, and how we can help that happen with more people.

About Author

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.